Canonical Allele Identifier: CA8228175

Gene: CYBA

Linked Data

• dbSNP Id: rs774771301
• ExAC: 16:88709820 C / G
• MyVariant Identifiers: chr16:g.88709820C>G (hg19) ; chr16:g.88643412C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643412C>G , CM000678.2:g.88643412C>G	GRCh38
NC_000016.9:g.88709820C>G , CM000678.1:g.88709820C>G	GRCh37
NC_000016.8:g.87237321C>G	NCBI36
NG_007291.1:g.12638G>C , LRG_52:g.12638G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.445G>C	ENSP00000512446.1:p.Gly149Arg
ENST00000696157.1:c.*746G>C	ENSP00000512447.1:n.*746G>C
ENST00000696158.1:c.*783G>C	ENSP00000512448.1:n.*783G>C
ENST00000696159.1:c.*452G>C	ENSP00000512449.1:n.*452G>C
ENST00000696160.1:c.556G>C	ENSP00000512450.1:p.Gly186Arg
ENST00000696161.1:c.659G>C	ENSP00000512451.1:p.Gly220Ala
ENST00000696162.1:c.*1248G>C	ENSP00000512452.1:n.*1248G>C
ENST00000696163.1:c.478G>C	ENSP00000512453.1:p.Gly160Arg
ENST00000261623.8:c.529G>C MANE Select	ENSP00000261623.3:p.Gly177Arg
ENST00000261623.7:c.529G>C	ENSP00000261623.3:p.Gly177Arg
NM_000101.3:c.529G>C	NP_000092.2:p.Gly177Arg
NM_000101.4:c.529G>C MANE Select	NP_000092.2:p.Gly177Arg